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The Swedish COG6‐CDG experience and a comprehensive literature review

Abstract Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6‐congenital disorders of glycosylation (COG6‐CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive m...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Zhi‐Jie Xia, Bobby G. Ng, Elizabeth Jennions, Maria Blomqvist, Anneli Sandqvist Wiklund, Carola Hedberg‐Oldfors, Carlos Rodriguez Gonzalez, Hudson H. Freeze, Sofia Ygberg, Erik A. Eklund
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Wiley 2023-01-01
Rangatū:JIMD Reports
Ngā marau:
Brefeldin A
COG6
congenital disorders of
enamel hypoplasia
glycosylation
Urunga tuihono:https://doi.org/10.1002/jmd2.12338
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